Characteristic Head Drops and Axial Extension in Advanced Chorea-Acanthocytosis
Identifieur interne : 002752 ( Main/Merge ); précédent : 002751; suivant : 002753Characteristic Head Drops and Axial Extension in Advanced Chorea-Acanthocytosis
Auteurs : Susanne A. Schneider [Royaume-Uni, Allemagne] ; Anthony E. Lang [Canada] ; Elena Moro [Canada] ; Benedikt Bader [Allemagne] ; Adrian Danek [Allemagne] ; Kailash P. Bhatia [Royaume-Uni]Source :
- Movement disorders [ 0885-3185 ] ; 2010.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
Chorea-acanthocytosis is a rare autosomal recessive neurodegenerative disorder with a complex clinical presentation comprising of a mixed movement disorder (mostly chorea and dystonia), seizures, neuropathy and myopathy, autonomic features as well as dementia and psychiatric features. Because the differential diagnosis is wide, clinical clues and red flags are important. We report here our observation of characteristic neck and trunk flexion and extension spasms in four cases with advanced chorea-acanthocytosis.
Links toward previous steps (curation, corpus...)
- to stream PascalFrancis, to step Corpus: 000985
- to stream PascalFrancis, to step Curation: 002334
- to stream PascalFrancis, to step Checkpoint: 000B65
Links to Exploration step
Pascal:10-0377353Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Characteristic Head Drops and Axial Extension in Advanced Chorea-Acanthocytosis</title>
<author><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, UCL, Institute of Neurology, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Schilling-Section of Neurogenetics, Department of Neurology, University of Lübeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Lübeck</wicri:noRegion>
<wicri:noRegion>University of Lübeck</wicri:noRegion>
<wicri:noRegion>Lübeck</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name>
<affiliation wicri:level="4"><inist:fA14 i1="03"><s1>Morton and Gloria Shulman Movement Disorders Centre, Toronto Western Hospital, University of Toronto, UHN</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>Toronto, Ontario</wicri:noRegion>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Moro, Elena" sort="Moro, Elena" uniqKey="Moro E" first="Elena" last="Moro">Elena Moro</name>
<affiliation wicri:level="4"><inist:fA14 i1="03"><s1>Morton and Gloria Shulman Movement Disorders Centre, Toronto Western Hospital, University of Toronto, UHN</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>Toronto, Ontario</wicri:noRegion>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bader, Benedikt" sort="Bader, Benedikt" uniqKey="Bader B" first="Benedikt" last="Bader">Benedikt Bader</name>
<affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München</s1>
<s2>Munich</s2>
<s3>DEU</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
<orgName type="university">Université Louis-et-Maximilien de Munich</orgName>
</affiliation>
</author>
<author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name>
<affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München</s1>
<s2>Munich</s2>
<s3>DEU</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
<orgName type="university">Université Louis-et-Maximilien de Munich</orgName>
</affiliation>
</author>
<author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, UCL, Institute of Neurology, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">10-0377353</idno>
<date when="2010">2010</date>
<idno type="stanalyst">PASCAL 10-0377353 INIST</idno>
<idno type="RBID">Pascal:10-0377353</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000985</idno>
<idno type="wicri:Area/PascalFrancis/Curation">002334</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">000B65</idno>
<idno type="wicri:doubleKey">0885-3185:2010:Schneider S:characteristic:head:drops</idno>
<idno type="wicri:Area/Main/Merge">002752</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Characteristic Head Drops and Axial Extension in Advanced Chorea-Acanthocytosis</title>
<author><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, UCL, Institute of Neurology, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Schilling-Section of Neurogenetics, Department of Neurology, University of Lübeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Lübeck</wicri:noRegion>
<wicri:noRegion>University of Lübeck</wicri:noRegion>
<wicri:noRegion>Lübeck</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name>
<affiliation wicri:level="4"><inist:fA14 i1="03"><s1>Morton and Gloria Shulman Movement Disorders Centre, Toronto Western Hospital, University of Toronto, UHN</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>Toronto, Ontario</wicri:noRegion>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Moro, Elena" sort="Moro, Elena" uniqKey="Moro E" first="Elena" last="Moro">Elena Moro</name>
<affiliation wicri:level="4"><inist:fA14 i1="03"><s1>Morton and Gloria Shulman Movement Disorders Centre, Toronto Western Hospital, University of Toronto, UHN</s1>
<s2>Toronto, Ontario</s2>
<s3>CAN</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>Toronto, Ontario</wicri:noRegion>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bader, Benedikt" sort="Bader, Benedikt" uniqKey="Bader B" first="Benedikt" last="Bader">Benedikt Bader</name>
<affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München</s1>
<s2>Munich</s2>
<s3>DEU</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
<orgName type="university">Université Louis-et-Maximilien de Munich</orgName>
</affiliation>
</author>
<author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name>
<affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München</s1>
<s2>Munich</s2>
<s3>DEU</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
<orgName type="university">Université Louis-et-Maximilien de Munich</orgName>
</affiliation>
</author>
<author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, UCL, Institute of Neurology, Queen Square</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2010">2010</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Acanthocytosis</term>
<term>Chorea</term>
<term>Head</term>
<term>Nervous system diseases</term>
<term>Trunk</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Syndrome choréique</term>
<term>Acanthocytose</term>
<term>Pathologie du système nerveux</term>
<term>Tête</term>
<term>Tronc</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Chorea-acanthocytosis is a rare autosomal recessive neurodegenerative disorder with a complex clinical presentation comprising of a mixed movement disorder (mostly chorea and dystonia), seizures, neuropathy and myopathy, autonomic features as well as dementia and psychiatric features. Because the differential diagnosis is wide, clinical clues and red flags are important. We report here our observation of characteristic neck and trunk flexion and extension spasms in four cases with advanced chorea-acanthocytosis.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Canada</li>
<li>Royaume-Uni</li>
</country>
<region><li>Angleterre</li>
<li>Bavière</li>
<li>District de Haute-Bavière</li>
<li>Grand Londres</li>
<li>Ontario</li>
</region>
<settlement><li>Londres</li>
<li>Munich</li>
<li>Toronto</li>
</settlement>
<orgName><li>Université Louis-et-Maximilien de Munich</li>
<li>Université de Toronto</li>
</orgName>
</list>
<tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name>
</region>
<name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name>
</country>
<country name="Allemagne"><noRegion><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name>
</noRegion>
<name sortKey="Bader, Benedikt" sort="Bader, Benedikt" uniqKey="Bader B" first="Benedikt" last="Bader">Benedikt Bader</name>
<name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name>
</country>
<country name="Canada"><region name="Ontario"><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name>
</region>
<name sortKey="Moro, Elena" sort="Moro, Elena" uniqKey="Moro E" first="Elena" last="Moro">Elena Moro</name>
</country>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Merge
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002752 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Merge/biblio.hfd -nk 002752 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= Main |étape= Merge |type= RBID |clé= Pascal:10-0377353 |texte= Characteristic Head Drops and Axial Extension in Advanced Chorea-Acanthocytosis }}
![]() | This area was generated with Dilib version V0.6.23. | ![]() |